Product Details

SNP ID

rs189370242

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218990981 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCCCTCAAACAGTGTCACACGG[A/C]TGTCATTGTGGTTCTGAGGCACAGC

Phenotype

MIM: 600836 MIM: 607150

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CRYBA2 PubMed Links

Gene Details

Gene

CRYBA2

Gene Name

crystallin beta A2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_057093.1	352	Missense Mutation	AGC,ATC	S106I	NP_476434.1
NM_057094.1	352	Missense Mutation	AGC,ATC	S106I	NP_476435.1

Gene

FEV

Gene Name

FEV, ETS transcription factor

There are no transcripts associated with this gene.

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